ClinVar Miner

List of variants in gene BCL11B reported as pathogenic for syndromic intellectual disability

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_138576.4(BCL11B):c.1216_1219dup (p.Pro407fs)
NM_138576.4(BCL11B):c.1272_1278del (p.Lys425fs) rs2139759372
NM_138576.4(BCL11B):c.1495G>T (p.Glu499Ter) rs1555376234
NM_138576.4(BCL11B):c.1500dup (p.Gly501fs) rs1595215462
NM_138576.4(BCL11B):c.1662_1668del (p.Ser555fs) rs2139757401
NM_138576.4(BCL11B):c.1770_1771del (p.Lys591fs) rs1886445034
NM_138576.4(BCL11B):c.1852C>T (p.Gln618Ter)
NM_138576.4(BCL11B):c.1944_1965del (p.Gly649fs) rs1886427331
NM_138576.4(BCL11B):c.2048del (p.Ser683fs) rs1595214071
NM_138576.4(BCL11B):c.211del (p.Leu71fs) rs2139953911
NM_138576.4(BCL11B):c.2346_2361del (p.Gly783fs) rs2139753299
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys) rs888230251
NM_138576.4(BCL11B):c.242del (p.Cys81fs) rs1555384300
NM_138576.4(BCL11B):c.2435_2436insAA (p.Val813fs) rs1886396455
NM_138576.4(BCL11B):c.2443del (p.Arg815fs)
NM_138576.4(BCL11B):c.2448_2461dup (p.Glu821fs) rs2139753037
NM_138576.4(BCL11B):c.2449_2456dup (p.Gly820fs) rs1555376035
NM_138576.4(BCL11B):c.2605del (p.Leu869fs)
NM_138576.4(BCL11B):c.2671del (p.Ala891fs) rs1555376017
NM_138576.4(BCL11B):c.427+1G>A rs2139953103
NM_138576.4(BCL11B):c.682C>T (p.Gln228Ter) rs1886522103

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